Variant report

Variant	rs2707064
Chromosome Location	chr12:122328531-122328532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122212415..122216174-chr12:122326415..122328726,3	K562	blood:
2	chr12:122228836..122242951-chr12:122324438..122335797,34	K562	blood:
3	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:
4	chr12:122326753..122329169-chr12:122336409..122338553,2	K562	blood:
5	chr12:122231564..122242843-chr12:122324518..122333366,33	K562	blood:
6	chr12:122325172..122329151-chr12:122329541..122333817,7	MCF-7	breast:
7	chr12:122063686..122066969-chr12:122326410..122329127,3	K562	blood:
8	chr12:122216844..122219009-chr12:122328314..122331162,2	K562	blood:
9	chr12:122212254..122213915-chr12:122326858..122328726,2	K562	blood:
10	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
11	chr12:122326249..122328617-chr12:122709300..122711997,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139718	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1144030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1154517	0.83[AMR][1000 genomes]
rs1154519	0.83[AMR][1000 genomes]
rs1168662	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1177573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1627963	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1667581	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1678958	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1678968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1720069	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2620342	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs830128	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122325800-122328600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:122326600-122328800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122327400-122333000	Weak transcription	Aorta	Aorta
4	chr12:122327400-122340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122327600-122328800	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:122327600-122328800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:122327600-122331600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:122327600-122331600	Weak transcription	Esophagus	oesophagus
9	chr12:122327600-122340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:122327800-122328600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:122327800-122328600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:122327800-122328600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:122327800-122328600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:122327800-122328600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:122327800-122328600	Enhancers	Brain Angular Gyrus	brain
16	chr12:122327800-122328600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr12:122327800-122328600	Genic enhancers	Fetal Intestine Small	intestine
18	chr12:122327800-122328600	Genic enhancers	Fetal Muscle Leg	muscle
19	chr12:122327800-122328600	Enhancers	Left Ventricle	heart
20	chr12:122327800-122328600	Enhancers	Ovary	ovary
21	chr12:122327800-122328800	Enhancers	Primary B cells from cord blood	blood
22	chr12:122327800-122328800	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:122327800-122328800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:122327800-122328800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:122327800-122328800	Enhancers	Brain Anterior Caudate	brain
26	chr12:122327800-122328800	Enhancers	Brain Hippocampus Middle	brain
27	chr12:122327800-122328800	Enhancers	Small Intestine	intestine
28	chr12:122327800-122329000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:122327800-122329200	Enhancers	Liver	Liver
30	chr12:122327800-122329800	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr12:122327800-122331200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:122327800-122331200	Weak transcription	Fetal Kidney	kidney
33	chr12:122327800-122331400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr12:122327800-122331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:122327800-122331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:122327800-122331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:122327800-122331600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:122327800-122332800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:122327800-122337400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:122327800-122341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:122328000-122328600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:122328000-122328600	Enhancers	Fetal Brain Female	brain
43	chr12:122328000-122328800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:122328000-122328800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:122328000-122328800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:122328000-122328800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:122328000-122328800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:122328000-122328800	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:122328000-122328800	Enhancers	Colonic Mucosa	Colon
50	chr12:122328000-122329600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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